RESUMO
The purpose of the present study was to investigate an association of the endothelial nitric oxide synthase (eNOS) gene polymorphism with asthma. eNOS intron4 variable number of tandem repeats (27 bp repeats) genotypes were determined in asthma patients and control subjects using microplate PCR. The Caucasian Asthma patients displayed three alleles while Caucasian controls displayed only two alleles. However, African Americans displayed all three alleles in both asthma patients and controls. African American controls displayed significantly higher a allele, significantly lower b allele, as well as c allele than those in Caucasians. This was the first report to show that there was a novel eNOS genotype present in asthmatic patients but not in control subjects in the Caucasian Community. The novel allele which we termed the c allele, could be a significant risk factor in the etiology of asthma in Caucasians. This novel allele could be involved in higher levels of NO in our Caucasian asthmatics.
Assuntos
Asma/genética , Óxido Nítrico Sintase/genética , Polimorfismo Genético , Alelos , Asma/etnologia , População Negra , Estudos de Casos e Controles , DNA/metabolismo , Frequência do Gene , Genótipo , Humanos , Íntrons , Repetições Minissatélites , Óxido Nítrico Sintase Tipo III , Razão de Chances , Fatores de Risco , População BrancaAssuntos
Síndrome de Down/epidemiologia , Síndrome de Down/genética , Ácido Fólico/administração & dosagem , Fenômenos Fisiológicos da Nutrição Materna , Estudos de Casos e Controles , Suplementos Nutricionais , Síndrome de Down/prevenção & controle , Feminino , Humanos , Recém-Nascido , Não Disjunção Genética , Polimorfismo Genético , Gravidez , Primeiro Trimestre da GravidezAssuntos
Hiper-Homocisteinemia/complicações , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Mutação Puntual , Oclusão da Veia Retiniana/etiologia , População Negra , Genótipo , Homocisteína/sangue , Humanos , Hiper-Homocisteinemia/sangue , Metilenotetra-Hidrofolato Redutase (NADPH2) , Polimorfismo Genético , Oclusão da Veia Retiniana/enzimologia , Oclusão da Veia Retiniana/etnologia , Fatores de RiscoRESUMO
In addition to heritable immunodeficiencies and polygenic susceptibility, acquisition genes and resistance genes are important genetic determinants of infectious diseases. Normal forms of acquisition genes permit entry of microorganisms into cells; mutations prevent entry. Normal forms of resistance genes prevent infections; mutations permit infections. The Genome Project has resulted in a growing list of each type. The current lists support important clinical principles. Many, if not most, pathogens readily enter cells unless prevented by antisepsis, blocking, and sterile techniques. Many, if not most, infections occur primarily in persons with heritable mutations of resistance genes.
Assuntos
Doenças Transmissíveis/genética , Predisposição Genética para Doença , Genética Médica/tendências , Infecções/genética , Feminino , Previsões , Genética Médica/normas , Genoma , Humanos , Masculino , Sensibilidade e EspecificidadeRESUMO
Geographic distribution of cancer incidence, as judged from death certificates in Louisiana, shows evidence of strong epidemiological forces. Inspection of data on migration and lung cancer frequency shows them to be associated. Inmigrants account for a majority of the lung cancer deaths. Under assumptions of phenotypic complexity stemming from both genetic and environmental components, we used a multiple regression technique to test the significance of this association. Given the nature of the data and the assumptions of the analysis, there was a reasonable level of significance, suggesting that inmigration of older persons may be largely responsible for higher cancer rates in some parishes (counties) in Louisiana.
